Variant report

Variant	rs964170
Chromosome Location	chr4:148695956-148695957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10027921	0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11099669	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1119887	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs11729081	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502667	0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs12640660	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12645249	1.00[ASW][hapmap];0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650280	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13116955	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13134018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13136202	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13136624	0.82[AFR][1000 genomes]
rs13136858	0.83[AFR][1000 genomes]
rs1604785	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes]
rs17023770	0.82[TSI][hapmap]
rs17023844	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs2055551	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2118036	0.85[ASW][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2134706	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2164527	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6535556	0.90[JPT][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs6535558	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6535559	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6535560	0.98[AFR][1000 genomes]
rs6535561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822971	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6829479	0.83[AMR][1000 genomes]
rs6836509	0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs6837391	0.83[AMR][1000 genomes]
rs6839987	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6840039	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6845560	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[LWK][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7673234	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7673606	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332471	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148679200-148696400	Weak transcription	Lung	lung
2	chr4:148687200-148696400	Weak transcription	Right Ventricle	heart
3	chr4:148689400-148698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:148689800-148699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:148691200-148696800	Enhancers	Psoas Muscle	Psoas
8	chr4:148691400-148697800	Enhancers	Fetal Intestine Small	intestine
9	chr4:148692200-148696800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:148692400-148697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:148693200-148696000	Enhancers	HMEC	breast
12	chr4:148693200-148696400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:148693200-148697000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:148693200-148700600	Enhancers	Colon Smooth Muscle	Colon
15	chr4:148693400-148696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:148693400-148697000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr4:148693400-148697800	Weak transcription	Pancreas	Pancrea
18	chr4:148693600-148696000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:148693600-148696000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:148693600-148696400	Weak transcription	Right Atrium	heart
21	chr4:148693600-148697200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:148693600-148697400	Weak transcription	Esophagus	oesophagus
23	chr4:148693800-148697400	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:148693800-148697600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:148693800-148697800	Weak transcription	Gastric	stomach
26	chr4:148693800-148699800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:148694200-148696400	Weak transcription	Fetal Kidney	kidney
28	chr4:148694600-148699400	Enhancers	Fetal Muscle Leg	muscle
29	chr4:148694800-148696000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:148694800-148696000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr4:148694800-148697000	Genic enhancers	HSMM	muscle
32	chr4:148694800-148698000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:148695000-148696000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:148695000-148696000	Weak transcription	Fetal Heart	heart
36	chr4:148695000-148696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:148695000-148696800	Enhancers	Ovary	ovary
38	chr4:148695000-148696800	Enhancers	HUVEC	blood vessel
39	chr4:148695000-148699600	Enhancers	Left Ventricle	heart
40	chr4:148695200-148696000	Enhancers	NH-A	brain
41	chr4:148695200-148696600	Weak transcription	A549	lung
42	chr4:148695200-148697800	Weak transcription	Stomach Mucosa	stomach
43	chr4:148695200-148698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:148695200-148698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:148695200-148698600	Weak transcription	Osteobl	bone
46	chr4:148695200-148701400	Weak transcription	Small Intestine	intestine
47	chr4:148695400-148696600	Enhancers	GM12878-XiMat	blood
48	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:148695600-148696400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:148695600-148696400	Weak transcription	Rectal Smooth Muscle	rectum

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